mortality/aging
• die within 20 minutes of birth
|
growth/size/body
• short, tapered trunk
|
limbs/digits/tail
embryo
• at E10.5 in the prospective cervical region, no clear difference is seen between the rostral and caudal parts of the sclerotome , although somitic boundaries are present
• at E10.5 in the prospective thoracolumbar region, both rostral-caudal polarity and clear segment boundaries are absent
|
• at E9.0 defective segmentation is seen in the paraxial mesoderm in the presumptive cervicothoracic region
• at E9.5 differentiation of the somitic mesoderm into the dermomyotome and sclerotome occurs without segmentation of the paraxial mesoderm
|
spina bifida
(
J:42014
)
• poorly formed vertebral lamina in the lumbosacral region result in spina bifida
|
• at E10.5 in the prospective thoracolumbar region, clear boundaries between the somites are absent in the sclerotome
|
• segmentation of paraxial mesoderm is delayed but not completely blocked
|
• at E10.5 in the prospective thoracolumbar region, clear boundaries between the somites are absent in the sclerotome
• however, segmentation is seen in the dermatome and myotome
|
skeleton
rib fusion
(
J:42014
)
• proximal regions of the ribs are fused
|
• unidentifiable
|
• vertebral bodies appear amorphous and alignment of ossification centers is irregular
|
• poorly formed in the lumbosacral region resulting in spina bifida
|
• segmentation of the lateral structures of the vertebrae is totally lost
• however, segmentation of the ventral structures is weakly retained
|
• the atlas and axis are always fused
• however, the joint between the occipital bone and the atlas is normal
|
• fusion of the transverse processes
|
• fusion of the pedicles of the neural arches
|
• impaired segmentation especially in evident at E12.5 in the caudal part of the embryo
• impairment of segmentation is more severe in the sclerotome than in the dermomyotome
|
nervous system
• at E10.5 in the prospective thoracolumbar region, spinal nerve axonal outgrowth into the ventral sclerotome is strongly impaired and fusion of disturbed axons is seen
• however, development of cranial nerves is similar to wild-type
|
spina bifida
(
J:42014
)
• poorly formed vertebral lamina in the lumbosacral region result in spina bifida
|
• fused and located more dorsally compared to wild-type controls
|
muscle
N |
• no particular abnormalities are found in the muscle and muscle fiber alignment is normal
|
• delayed and irregular segmentation
|
integument
N |
• no particular abnormalities are found in the dermis
|
cellular
• at E10.5 in the prospective thoracolumbar region, spinal nerve axonal outgrowth into the ventral sclerotome is strongly impaired and fusion of disturbed axons is seen
• however, development of cranial nerves is similar to wild-type
|